3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures

Turk J Pediatr. Nov-Dec 2009;51(6):587-92.

Abstract

Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. Deficiency of the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH), which catalyzes the first step in the biosynthetic pathway, leads to congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report a 4 1/2-year-old boy who presented with congenital microcephaly, psychomotor retardation, hypertonia, strabismus, and drug-resistant seizures due to 3-PGDH deficiency. His seizures responded to L-serine and glycine supplementation only. This potentially treatable disease should be borne in mind in patients with congenital microcephaly, psychomotor retardation and seizures. A timely diagnosis based on the detection of low cerebrospinal fluid levels of L-serine and glycine is expected to further increase the success of L-serine and glycine supplementation in these patients.

Publication types

  • Case Reports

MeSH terms

  • Deficiency Diseases / complications
  • Deficiency Diseases / diet therapy*
  • Deficiency Diseases / enzymology
  • Dietary Supplements
  • Follow-Up Studies
  • Glycine / therapeutic use*
  • Humans
  • Infant
  • Male
  • Phosphoglycerate Dehydrogenase / blood
  • Phosphoglycerate Dehydrogenase / deficiency*
  • Seizures / diet therapy
  • Seizures / enzymology
  • Seizures / etiology*
  • Serine / therapeutic use*

Substances

  • Serine
  • Phosphoglycerate Dehydrogenase
  • Glycine